TSC2/PKD1 contiguous gene syndrome. Report of two cases

The two major genes responsible for autosomal dominant polycystic kidney disease and complex tuberous sclerosis are located on chromosome 16 at position 16p13.3, separated by only a few nucleotides. A simultaneous loss of both genes has been termed "the TSC2/PKD1 contiguous gene syndrome"....

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Bibliographic Details
Published in:	Annales de pathologie Vol. 27; no. 2; p. 136
Main Authors:	Yadaden, Tarik, Molinié, Vincent, Ples, Raluca, Lazure, Thierry, Benoît, Gérard, Yonneau, Laurent, Ferlicot, Sophie
Format:	Journal Article
Language:	French
Published:	France 01-04-2007
Subjects:	Adult Chromosome Disorders - genetics Female Humans Male Middle Aged Polycystic Kidney Diseases - genetics Polycystic Kidney Diseases - pathology Protein-Serine-Threonine Kinases - genetics Tumor Suppressor Proteins - genetics
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Summary:	The two major genes responsible for autosomal dominant polycystic kidney disease and complex tuberous sclerosis are located on chromosome 16 at position 16p13.3, separated by only a few nucleotides. A simultaneous loss of both genes has been termed "the TSC2/PKD1 contiguous gene syndrome". It has been described essentially in young children. We report 2 new cases in French adults, in whom the diagnosis has been made fortuitously on the macroscopic and microscopic examination of the nephrectomy specimen. This diagnosis should be considered for the association of a polycystic kidney disease and numerous angiomyolipomas. It is necessary to set up a specific follow-up of both diseases.
ISSN:	0242-6498
DOI:	10.1016/S0242-6498(07)91301-2